myoclonic epilepsy, juvenile

Preferred Label : myoclonic epilepsy, juvenile;

MeSH definition : A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323);

MeSH synonym : epilepsy, juvenile myoclonic; jme (juvenile myoclonic epilepsy); jmes (juvenile myoclonic epilepsy); juvenile myoclonic epilepsy; epilepsy, myoclonic, juvenile; epilepsy, myoclonic juvenile; Juvenile Epilepsy, Myoclonic; Myoclonic Juvenile Epilepsy; Impulsive Petit Mal, Janz; Janz Syndrome; Impulsive Petit Mal Epilepsy; Janz Impulsive Petit Mal; Janz Juvenile Myoclonic Epilepsy; Juvenile Myoclonic Epilepsy of Janz; Myoclonic Epilepsy, Adolescent; Epilepsy, Adolescent Myoclonic; Petit Mal, Impulsive, Janz; Myoclonic Epilepsy, Juvenile, 1; Petit Mal, Impulsive; Adolescent Myoclonic Epilepsy;

CISMeF synonym : syndrome, janz; Epilepsies, Myoclonic Juvenile; Juvenile Epilepsies, Myoclonic; adolescent myoclonic epilepsies; epilepsies, adolescent myoclonic; epilepsies, juvenile myoclonic; impulsive petit mal epilepsy; juvenile myoclonic epilepsies; juvenile myoclonic epilepsy of janz; myoclonic epilepsies, adolescent; myoclonic epilepsies, juvenile; myoclonic epilepsy, adolescent; myoclonic epilepsy, juvenile, 1; petit mals, impulsive;

DeCS synonym : Panayiotopoulos Syndrome; Panayiotopoulos Syndromes; Myoclonic Juvenile Epilepsies;

MeSH hyponym : Janz Syndrome; Petit Mal, Impulsive, Janz; Janz Juvenile Myoclonic Epilepsy; Impulsive Petit Mal, Janz; Janz Impulsive Petit Mal; Petit Mal, Impulsive; Epilepsy, Adolescent Myoclonic; Adolescent Myoclonic Epilepsy;

Wikipedia link : https://en.wikipedia.org/wiki/Juvenile myoclonic epilepsy;

Details

Origin ID

D020190;

UMLS CUI

C0270853;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Benign childhood occipital epilepsy, Panayiotopoulos type [ORDO Disease]
- Benign occipital epilepsy of childhood - early onset variant (disorder) [SNOMED CT concept]
- Early onset benign occipital epilepsy, Panayiotopoulos type [ICD-11 More detail]
- Epilepsy, myoclonic juvenile [OMIM phenotypic series]
- Juvenile myoclonic epilepsy [ICD-11 Sub-sub category]
Currated CISMeF NLP mapping
- Epilepsy, myoclonic juvenile [OMIM Phenotype]
- Juvenile Myoclonic Epilepsy [NCIt concept]
- Juvenile myoclonic epilepsy [ORDO Disease]
- Juvenile myoclonic epilepsy [MedDRA Preferred Term]
- Juvenile myoclonic epilepsy (disorder) [SNOMED CT concept]
- juvenile myoclonic epilepsy [DO Concept]
- juvenile myoclonic epilepsy [Disease (Nov.)]
- juvenile myoclonic epilepsy [SNOMED Notion]
DO Cross reference
- juvenile myoclonic epilepsy [DO Concept]
Indexing information
- EFHC1 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Adolescent-onset epilepsy syndrome [ORDO Disease]
- Channelopathy due to a neuronal kidney GABA receptor defect [ORDO Disease]
- Channelopathy due to a voltage-gated calcium channel defect [ORDO Disease]
- Channelopathy with epilepsy [ORDO Disease]
- Familial partial epilepsy [ORDO Disease]
- Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect [ORDO Disease]
ORDO relation(s)
- Juvenile myoclonic epilepsy [ORDO Disease]
Record concept(s)
- myoclonic epilepsy, juvenile [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epilepsy, myoclonic juvenile [OMIM Phenotype]
- Juvenile Myoclonic Epilepsy [NCIt concept]
- Juvenile myoclonic epilepsy [MedDRA Preferred Term]
- Juvenile myoclonic epilepsy [ORDO Disease]
- Juvenile myoclonic epilepsy (disorder) [SNOMED CT concept]
- juvenile myoclonic epilepsy [SNOMED Notion]
- juvenile myoclonic epilepsy [DO Concept]
- juvenile myoclonic epilepsy [Disease (Nov.)]

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